title: A novel heterozygous missense mutation G316D of SIX3 gene in a Brazilian patient with holoprosencephaly-like phenotype and Langerhans cell histiocytosis.
abstract: Here we report on a Brazilian female patient with the clinical manifestations of the holoprosencephaly-like phenotype who also presented with a retroocular granuloma diagnosed as Langerhans cell histiocytosis in early infancy. Mutation analysis showed a missense mutation (G316D) in the exon 2 of SIX3 gene, which was predicted as damaged by the PolyPhen program. We discuss the clinical and genetic aspects of this unusual case.
authors.affiliation: Setor de Genética, Hospital de Reabilitação de Anomalias Craniofaciais, USP/Bauru, Brazil.
authors.forename: Lucilene Arilho
authors.initials: LA
authors.lastname: Ribeiro
authors.forename: Claudia Danielli Pereira
authors.initials: CDP
authors.lastname: Bertolacini
authors.forename: Rodrigo Gonçalves
authors.initials: RG
authors.lastname: Quiezi
authors.forename: Antonio
authors.initials: A
authors.lastname: Richieri-Costa
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D001938:Brazil; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006646:Histiocytosis, Langerhans-Cell / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D016142:Holoprosencephaly / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D020125:Mutation, Missense / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D000097607:Homeobox Protein SIX3
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; D009419:Nerve Tissue Proteins; D000097607:Homeobox Protein SIX3